A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14284580



Internal ID22189165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54934598..54936955hg38UCSC Ensembl
chr18:52601829..52604186hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382358
hg192358
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229794
Supporting Variants
SamplesHG00731
Known GenesCCDC68
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14284580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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